2022 International Congress » Parkinson's Disease: Genetics

A case with clinical features of alpha-synuclein- and tauopathy: Genetic and histopathological workup.

D. Gruber, C. Mawrin, A. Vogel, T. Usnich, N. Brueggemann, C. Klein, P. Bauer, F. Gandor, G. Ebersbach (Beelitz-Heilstaetten, Germany)

A novel alpha-synuclein gene (SNCA) missense variant in an Austrian familiy with atypical neuropathological features

C. Brücke, M. Zech, T. Outeiro, E. Gelpi, A. Zimprich (VIenna, Austria)

Association of a new pathogenic variant of LRRK2 with modifying lysosomal genes in a family with Parkinson’s disease

L. Vela-Desojo, M. Osuna-Lopez, C. Guerrero, A. Pascual, F. Palau, J. Hoenicka (Alcorcón, Spain)

Association of glucocerebrosidase genotype and disease progression in early Parkinson’s disease over the course of 80 weeks

H. Frequin, B. Ferwerda, C. Verschuur, S. Suwijn, J. Dijk, R. de Bie (Amsterdam, Netherlands)

Biochemical markers of glucocerebrosidase (GCase) deficiency in primary macrophages derived from GBA1 mutation carriers with and without Parkinson’s disease

S. Pchelina, A. Kopytova, M. Nikolaev, A. Emelyanov, G. Baydakova, T. Usenko, A. Izymchenko, D. Bogdanova, K. Senkevich, I. Miliukhina, Y. Zakharova (Gatchina, Russian Federation)

CCDC88C p.R464H likely cause a novel late-onset parkinsonism phenotype

Z. Lin, W. Luo (Hangzhou, China)

Cholinergic Innervation and Cognitive Functioning in De Novo Parkinson’s Patients with GBA Variations

S. Slingerland, S. Vander Zee, JM. Boertien, AC. Slomp, T. van Laar (Groningen, Netherlands)

Clinical phenotype of non-manifesting carriers of mutations in the GBA and LRRK2 genes

N. Omer, N. Giladi, A. Bar-Shira, M. Gana-Weisz, O. Goldstein, O. Asias, J. Shirvan, J. Cedarbaum, M. Kestenbaum, A. Orr-Urtreger, R. Alcalay, A. Mirelman, A. Thaler (Tel-Aviv, Israel)

Clinical presentation of SNCA Duplication Parkinsonism in a Family Kindred

K. Dent, M. Rochman, D. Kremens, J. Ratliff (Philadelphia, USA)

Closing the gap: Increasing access to genetic testing and counseling for Hispanics through PD research

P. Delgado Hodges, R. Deleon, A. Naito, R. Cruz Vicioso, A. Viñuelas, F. Velez Lago, L. Forastieri, I. F Mata (Indianapolis, USA)

COMT polymorphism as a genetic factor in levodopa-induced dyskinesia development in Russian patients with Parkinson’s disease

G. Akhmadeeva, I. Khidiyatova, I. Gilyazova, S. Umutbaev, O. Kachemaeva, A. Baitimerov, R. Galimova, R. Magzhanov (Ufa, Russian Federation)

Developing New Insights Into Clinical and Genetic Features of PD – The Global Parkinson’s Genetics Program (GP2) Clinical Cohorts Working Group

M. Richer, C. Towns, A. Martinez-Carrasco, J. Solle, A. Singleton, C. Blauwendraat, M. Tan, H. Iwaki, D. Vitale, Y. Song, M. Nalls, T. Antar, H. Morris (London, United Kingdom)

Developing zebrafish CRISPR/Cas9 knockout models of Parkinson’s Disease to identify novel therapeutic targets.

J. García-Fernández, L. López-Blanch, M. Irimia, F. de Santis, J. Terriente (Badalona, Spain)

DNA methylation differs between idiopathic Parkinson Disease and Healthy Control subjects in the Parkinson’s Progression Marker Initiative (PPMI) cohort

P. Gonzalez-Latapi, B. Bustos, T. Simuni, S. Lubbe, D. Krainc (Chicago, USA)

Double trouble: Association of malignant melanoma with sporadic and genetic forms of Parkinson’s disease and asymptomatic carriers of related genes in the PPMI study.

C. Koros, AM. Simitsi, A. Bougea, N. Papagiannakis, I. Pachi, A. Prentakis, R. Antonelou, A. Zahou, I. Beratis, E. Efthymiopoulou, E. Stanitsa, C. Chrysovitsanou, E. Angelopoulou, K. Lourentzos, V. Constantinides, M. Bozi, D. Papadimitriou, A. Bonakis, G. Paraskevas, C. Potagas, S. Papageorgiou, X. Trapali, M. Stamelou, L. Stefanis (Athens, Greece)

Evaluation of Genetic influence of APOE on Clinical and motor functions among Idiopathic Parkinson’s Disease Patients; A comparative study

W. Ibrahim, H. Shehata, L. Rashed, A. Sabbah, H. Amer (Cairo, Egypt)

Evolution of biochemical and clinical signature of GBA-related Parkinson’s Disease: a 2-year longitudinal study

M. Avenali, S. Cerri, G. Ongari, C. Pacchetti, C. Tassorelli, EM. Valente, F. Blandini (Pavia, Italy)

Frequency of non-motor symptoms in GBA-PD may differ in carriers of mild vs. severe pathogenic variants

T. Usnich, N. Brüggemann, M. Olmedillas, N. Schell, I. Csoti, S. Ertan, D. Gruber, S. Zittel, E. Sammler, S. Isaacson, A. Kühn, D. Pedrosa, K. Reetz, A. Sah, M. Kasten, P. Bauer, C. Klein (Lübeck, Germany)

Functional validation of a mitochondria-specific polygenic risk score in patient-based models for stratification of idiopathic Parkinson’s disease

G. Arena, Z. Landoulsi, A. Vitali, S. Delcambre, P. Antony, I. Boussaad, L. Pavelka, M. Sharma, E. Glaab, D. Grossmann, A. Grünewald, P. May, R. Krüger (Esch-sur-Alzette, Luxembourg)

Gene and variant curation of Parkinson’s disease genes by an authoritative expert panel

J. Beck, K. Lohmann, L. Lange, A. Naito, A. Kumeh, C. Thaxton, M. Weaver, S. Strom, R. Alcalay (New York, USA)

Genetic correlation and potential causal relationship between inflammatory bowel disease and Parkinson’s disease

S. Grover, E. Wacker, A. Kumar-Sreelatha, A. Elbaz, R. Krüger, T. Gasser, D. Ellinghaus, M. Sharma (Tuebingen, Germany)

Genetic determinants of early motor progression in Parkinson’s cohorts

A. Martinez-Carrasco, M. Lawton, R. Real, M. Tan, C. Carroll, JC. Corvol, D. Grosset, M. Hu, J. Hardy, N. Williams, Y. Ben-Shlomo, M. Shoai, H. Morris (London, United Kingdom)

Genetic stratification of motor and quality of life outcomes in Parkinson’s disease in the EARLYSTIM study

D. Weiss, Z. Landoulsi, P. May, M. Sharma, M. Schüpbach, H. You, JC. Corvol, S. Paschen, AK. Helmers, M. Barbe, G. Fink, A. Kühn, C. Brefel-Courbon, L. Wojtecki, P. Damier, V. Fraix, JL. Houeto, J. Regis, F. Sixel-Döring, M. Pinsker, S. Thobois, A. Gharabaghi, V. Stoker, L. Timmermann, A. Schnitzler, P. Krack, M. Vidailhet, G. Deuschl, R. Krüger (Tübingen, Germany)

Genetics Of Parkinson’s in India – Young Onset Parkinson’s Disease (GOPI-YOPD) : Genetics of Juvenile, Young and Early Onset Parkinson’s Disease

P. Kukkle, V. Goyal, T. Geetha, R. Menon, R. Kandadai, U. Mahadevia, H. Kumar, R. Borgohain, A. Mukherjee, P. Wadia, R. Yadav, S. Desai, N. Kumar, S. Nair, S. Murugan, A. Biswas, P. Pal, M. Oliver, S. Sundaram, M. Deshmukh, A. Bassi, C. Sandeep, N. Mandloi, A. Kayalvizhi, U. Muthane, S. Das, S. Seshagiri, R. Gupta, V. Ramprasad (Bangalore, India)

Genome-wide association study of Aβ, t-tau and p-tau in CSF in Parkinson’s disease

H. Iwaki (Bethesda, USA)

Genome-wide meta-analysis of Parkinson’s disease identifies a novel chromosomal 22 locus: findings from the COURAGE-PD consortium

S. Grover, A. Kumar-Sreelatha, Z. Landoulsi, P. May, D. Bobbili, C. Domenighetti, C. Schulte, PE. Sugier, A. Elbaz, R. Krüger, T. Gasser, M. Sharma (Tuebingen, Germany)

GLA-associated early-onset Parkinson’s disease: the mimicry between Fabry disease and parkinsonisms

O. de Fabregues, A. Pascual-Rodríguez, M. de Lucca, M. Sellés, F. Palau, G. Fernández, J. Hoenicka (Barcelona, Spain)

GP2: Growing a research community in the Parkinson’s disease genetics field through training and networking

S. Dey, A. Noyce, C. Bale, M. Kuhl, H. Leonard, P. Lewis, S. Stott, J. Callanan, A. Martinez-Carrasco, S. Bandres-Ciga, G. Genetics Program (London, United Kingdom)

GRIN2D is a cause of autosomal dominant form of Parkinson’s disease

A. Kishore, M. Sturm, J. Shin, S. Grover, F. Raimondi, C. Blauwendraat, S. Robert, G. Sarma, N. Casadei, P. Lichtner, A. Kumar-Sreelatha, J. Winkelmann, R. Krüger, A. Singleton, T. Gasser, P. Seth, J. Roeper, O. Riess, M. Sharma (Kochi, India)

Heterozygous mutations in the Parkin gene – two different presentations of Parkinson’s disease

F. Barros, J. Alves, D. Reis-Carneiro, F. Moreira, A. Morgadinho (Coimbra, Portugal)

Identification and clinical characterization of GBA variants in the Luxembourg Parkinson’s Study

S. Pachchek, Z. Landoulsi, D. Reddy Bobbili, L. Pavelka, O. Terwindt, J. Torre, A K. Hauser, C. Schulte, E. Buena-Atienza, C. Gross, N. Casadei, R. Krüger, P. May (Belvaux, Luxembourg)

Identification and functional characterization of genetic modifier of penetrance in G2019S LRRK2-associated Parkinson’s disease through family whole genome sequencing

J. Ohnmacht, D. Bobbili, P. May, E. Glaab, J. Kaye, S. Finkbeiner, R. Krüger (Strassen, Luxembourg)

Impact of rs6265 in the Host and Donor on Dopamine Neuron Graft Function.

C. Szarowicz, M. Caulfield, J. Stancati, M. Vanderwerp, C. Sortwell, J. Patterson, M. Benskey, T. Collier, K. Steece-Collier (Grand Rapids, USA)

Investigation of Modifiers of β-Glucocerebrosidase in Cell Models of Parkinson’s Disease

A. Wernick, J. Evans, G. Virdi, M. Choi, D. Athauda, Z. Zanjani Shadman, H. Plun-Favreau, S. Wray, S. Gandhi (London, United Kingdom)

Long-read nanopore sequencing for cost-effective and comprehensive analysis of GBA mutations in Norwegian patients with Parkinson’s disease

C. Gabbert, S. Schaake, T. Lüth, C. Klein, J. Aasly, M. Farrer, J. Trinh (Lübeck, Germany)

LRRK2 and GBA major variants in the New York Mount Sinai BioMe Biobank

A. Yoo, R. Ortega, V. Katsnelson, A. Debebe, A. Rendon, M. Picker, D. Raymond, S. Bressman, L. Ozelius, I. Peter, R. Saunders-Pullman (New York, USA)

Merging global cohorts of manifesting and non-manifesting carriers of pathogenic variants in known Parkinson’s disease genes

K. Roopnarain, E. Vollstedt,, L. Lange, S. Padmanabhan, C. Blauwendraat, A. Singleton, K. Katja, C. Klein (Luebeck, Germany)

Meta-analysis between LARGE-PD cohorts reveals new potential susceptibility regions on the chromosome X

T. Peixoto Leal, S. Rao, M. Inca-Martinez, M. Gouveia, J. French-Kwawu, V. Borda, E. Mason, D. Loesch, A. Horimoto, E. Sarihan, M. Cornejo-Olivas, L. Torres, P. Mazzetti, C. Cosentino, E. Sarapura-Castro, A. Rivera-Valdivia, A. Medina, E. Dieguez, V. Raggio, A. Lescano, V. Tumas, V. Borges, H. Ferraz, C. Rieder, A. Schumacher-Schuh, B. Santos-Lobato, C. Velez-Pardo, M. Jimenez-Del-Rio, F. Lopera, S. Moreno, P. Chana-Cuevas, W. Fernandez, G. Arboleda, H. Arboleda, C. Arboleda-Bustos, D. Yearout, C. Zabetian, T. Thornton, T. O'Connor, I. Mata (Cleveland, USA)

Monogenic Hub of the Global Parkinson’s Genetics Program (GP2): In search of new PD genes

L. Lange, ZH. Fang, E. Valente, SY. Lim, A. Tan, A. Illarionova, M. Avenali, I. Keller Sarmiento, H. Madoev, K. Roopnarain, C. Galandra, M. Ellis, K. Kumar, P. Heutink, N. Mencacci, K. Lohmann, C. Klein (Lübeck, Germany)

Motor and non-motor features of Parkinson’s disease in a large cohort of Gaucher’s disease patients

E. Monfrini, I. Trezzi, MC. Malaguti, A. Tessitore, A. Barbato, P. Tirelli, F. Spagnolo, MD. Cappellini, E. Cassinerio, I. Motta, F. Carubbi, F. Nascimbeni, L. Borin, A. Di Fonzo (Milano, Italy)

Newly identified cases of parkinsonism and prodromal PD in a remote LRRK2 G2019S cohort

J. Soto, S. Jensen-Roberts, T. Myers, M. Pawlik, E. Hartman, S. Lettenberger, A. Kaplan, R. Toor, R. Wilson, P. Auinger, E. Dorsey, B. Valdovinos, K. Amodeo, S. Sharma, R. Holloway, C. Tanner, R. Alcalay, R. Schneider (Rochester, USA)

No evidence for the impact of SNCA rs356219 on Parkinson’s disease progression

A. Szwedo, T. Stoker, M. Camacho, D. Backström, L. Forsgren, R. Lawson, A. Yarnall, C. Williams-Gray, A. Macleod, C. Counsell, OB. Tysnes, G. Alves, J. Maple-Grødem (Stavanger, Norway)

Novel bi-allelic variants in FBXO7 in a family with young-onset typical Parkinson’s disease

I. Keller Sarmiento, M. Afshari, L. Kinsley, V. Silani, S. Lubbe, N. Mencacci, D. Krainc (Chicago, USA)

NPC1 is not a PD risk factor gene

G. Barrel, M. Olmedillas, K. Kandaswamy, A. Westenberger, G. Hartmann, C. Klein, P. Bauer, C. Beetz (Rostock, Germany)

Parkinson disease with LRRK2 mutation associated with upper motor neuron dysfunction

A. Rodriguez-Sanz, S. Serrano (MADRID, Spain)

PD GENEration Clinical Phase: Genetic Diagnostic Yield and Clinical Characteristics

L. Cook, J. Verbrugge, T. Schwantes-An, M. Nance, A. Naito, K. Marder, M. Schwarzschild, T. Simuni, A. Wills, A. Hall, J. Schulze, P. Hodges, C. Casaceli, L. Heathers, K. Ghosh, J. Beck, R. Alcalay (Indianapolis, USA)

PLA2G6-related dystonia-parkinsonism in identical twins manifesting at an advanced age: a case report and review of the literature.

D. Sugar, K. Kompoliti (Chicago, USA)

Polymorphisms in Prosaposin gene are associated with familial and early-onset Parkinson’s disease: A case-control association study and meta-analysis

YT. Chu, MC. Kuo, YA. Su, RM. Wu (Taipei, Taiwan)

Post deep brain stimulation cognitive decline in GBA-related Parkinson’s disease

C. Weill, A. Gallant, E. Linetsky, Z. Israel, D. Arkadir (jerusalem, Israel)

Prevalence of GBA parkinsonism in Slovak Parkinson’s disease population

A. Lacková, V. Han, P. Pavelekova, Z. Gdovinova, M. Skorvanek, K. Kulcsarova, M. Ostrozovicova, T. Lorincova, P. Bauer, CH. Beetz, S. Oppermann, E. Tusay, B. Kovacova, B. Stasko, E. Petro, S. Bohacova (Košice, Slovakia)

Resequencing of the complete SNCA locus in Indian patients with Parkinson’s disease

A. Kishore, M. Sturm, S. Krishnan, G. Sarma, C. Hakkaart, A. Sreelatha (Kochi, India)

Sensor-based gait analysis in the premotor stage of LRRK2 G2019S-associated Parkinson’s disease

A. Sánchez Rodríguez, C. Tirnauca, D. Salas-Gómez, M. Fernández-Gorgojo, I. Martínez Rodríguez, M. Sierra, I. González Aramburu, D. Stan, A. Gutierrez-González, J. M Meissner, J. Andrés Pacheco, M. Rivera Sánchez, M. Sánchez-Peláez, P. Sánchez Juan, J. Infante (Santander, Spain)

Serum Metabolomic Characterization of PLA2G6-associated Dystonia-Parkinsonism: a case-control biomarker study

C. Chen, M. Lou, Y. Sun, W. Wang, J. Wang (Shanghai, China)

Shared molecular genetic factors influence brain morphometry and Parkinson’s disease risk

L. Garcia-Marin, P. Reyes, Z. Ceja, N. Ogonowski, B. García-Vilchis, A. Ruiz-Contreras, D. Vazquez-Guevara, S. Alcauter, E. Morelos, A. Medina-Rivera, B. Mitchell, M. Rentería (Brisbane, Australia)

Short and long-term Impact of Covid-19 Pandemic on motor and non-motor symptoms in Leucine-rich repeat kinase2 (LRRK2) associated Parkinson’s disease

A. Nasri, S. Mrabet, Y. Abida, A. Souissi, A. Gharbi, A. Gargouri, I. Kacem, R. Gouider (Tunis, Tunisia)

Structural MRI features of glucocerebrosidase (GBA)-associated Parkinson’s disease

R. Patel, T. Stoub, B. Cozzi, G. Pal (Chicago, USA)

Study of retinal and optic nerve ganglion cell layer in Parkinson’s disease and asymptomatic carriers of the LRRK2-G2019S mutation

A. Cerveró, A. Sánchez-Rodríguez, M. Rivera-Sánchez, I. Martínez-Rodríguez, M. Sierra, I. González-Aramburu, A. Gutiérrez-González, J. Andrés-Pacheco, A. Casado, J. Infante (Santander, Spain)

Systematic mapping of Parkinson’s disease gene interactions

P. Antony, J. Forster, O. Kondratyeva, S. Köglsberger, R. Krüger (Belvaux, Luxembourg)

The correlation between genetic factors and freezing of gait in patients with Parkinson’s disease

B. Radojević, N. Dragašević-Mišković, A. Milovanović, M. Svetel, I. Petrović, I. Jančić, D. Stanisavljević, O. Milićević, M. Savić, V. Kostić (Belgrade, Serbia)

The frequency of glucocerebrosidase mutations in a subgroup of early-onset Parkinson’s disease patients in the Korean population

J. Lee, J. Hwangbo (Yangsan, Republic of Korea)

The Genetic Landscape of Parkinson’s disease in populations of non-Caucasian ancestry.

C. Koros, AM. Simitsi, N. Papagiannakis, A. Bougea, I. Pachi, R. Antonelou, M. Stamelou, L. Stefanis (Athens, Greece)

The influence of GBA and LRRK2 on mood disorders in Parkinson’s Disease

A. Thaler, N. Omer, B. Cohen, N. Giladi, M. Kestenbaum, J. Shirvan, J. Cedarbaum, M. Gana-Weisz, O. Goldstein, A. Orr-Urtreger, A. Mirelman (Tel-Aviv, Israel)

The mitochondrial risk score and lifestyle factors are associated with age at onset in LRRK2 p.Gly2019Ser Parkinson’s disease.

T. Lüth, C. Gabbert, P. Lajer, I. König, A. Caliebe, S. Koch, B-H. Laabs, F. Hentati, S. Sassi, R. Amouri, C. Klein, A. Grünewald, M. Farrer, J. Trinh (Lübeck, Germany)

The Rostock International Parkinson’s Disease (ROPAD) Study: Analysis of Monogenic PD Genes

A. Westenberger, V. Skrahina, C. Beetz, T. Usnich, E-J. Vollstedt, X. Bogdanovic, N. Schell, M. Olmedillas, F. Curado, J. Paul, S. Skobalj, N. Brüggemann, N. Ameziane, I. Csoti, M. Kasten, C. Klein, P. Bauer, A. Rolfs (Lübeck, Germany)

The study of genetic factors in motor levodopa-induced complications development in Russian patients with Parkinson’s disease

G. Akhmadeeva, I. Khidiyatova, I. Gilyazova, S. Umutbaev, A. Baitimerov, O. Kachemaeva, R. Galimova, R. Magzhanov (Ufa, Russian Federation)

TRPV4 Mutation related Parkinson’s Disease with Scapuloperoneal spinal muscular atrophy

A. Deenadayalu, P. A, V. Paramanandam (Limerick, Ireland)

TWNK in Parkinson’s disease: a Movement Disorder and Mitochondrial Disease Center perspective study

M. Percetti, G. Franco, E. Monfrini, L. Caporali, R. Minardi, C. La Morgia, M. Valentino, R. Liguori, I. Palmieri, D. Ottaviani, M. Vizziello, D. Ronchi, F. Di Berardino, A. Cocco, G. Comi, A. Albanese, B. Giometto, E. Valente, V. Carelli, A. Di Fonzo (Milano, Italy)